TTN c.30248G>A ;(p.R10083H)

Variant ID: 2-179567366-C-T

NM_001267550.1(TTN):c.30248G>A;(p.R10083H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.

Nature Communications
van Riet, Job J; van de Werken, Harmen J G HJG; Cuppen, Edwin E; Eskens, Ferry A L M FALM; Tesselaar, Margot M; van Veenendaal, Linde M LM; Klümpen, Heinz-Josef HJ; Dercksen, Marcus W MW; Valk, Gerlof D GD; Lolkema, Martijn P MP; Sleijfer, Stefan S; Mostert, Bianca B
Publication Date: 2021-07-29

Variant appearance in text: TTN: 30248G>A; Arg10083His; rs759347532
PubMed Link: 34326338
Variant Present in the following documents:
  • 41467_2021_24812_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Scientific Reports
Tobita, Takashige T; Nomura, Seitaro S; Fujita, Takanori T; Morita, Hiroyuki H; Asano, Yoshihiro Y; Onoue, Kenji K; Ito, Masamichi M; Imai, Yasushi Y; Suzuki, Atsushi A; Ko, Toshiyuki T; Satoh, Masahiro M; Fujita, Kanna K; Naito, Atsuhiko T AT; Furutani, Yoshiyuki Y; Toko, Haruhiro H; Harada, Mutsuo M; Amiya, Eisuke E; Hatano, Masaru M; Takimoto, Eiki E; Shiga, Tsuyoshi T; Nakanishi, Toshio T; Sakata, Yasushi Y; Ono, Minoru M; Saito, Yoshihiko Y; Takashima, Seiji S; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I
Publication Date: 2018-01-31

Variant appearance in text: TTN: 30248G>A; R10083H
PubMed Link: 29386531
Variant Present in the following documents:
  • 41598_2018_20114_MOESM1_ESM.pdf
View BVdb publication page